Angelman Syndrome: Misunderstood Condition or Overhyped Diagnosis?
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  • Writer's pictureSamantha Badrock
    • Apr 16
    • 6 min read

Angelman Syndrome: Misunderstood Condition or Overhyped Diagnosis?

Angelman Syndrome (AS) remains a perplexing condition, often overshadowed by more widely recognized disorders. While some view it as a rare but significant neurological disorder deserving of greater attention and resources, others argue that its prevalence is exaggerated, leading to misconceptions and inadequate support. This article aims to dissect the controversy surrounding AS, exploring both perspectives to shed light on the true nature of this condition.


A 5 year old girl with Angelman Syndrome
A 5-year-old girl with Angelman syndrome. Image credit: Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL – Mol Cytogenet, 2015.

Misdiagnosis is a significant concern in the realm of Angelman Syndrome, with studies indicating relatively high rates ranging from 10% to 50%. This variability in diagnosis can be attributed to several factors, including the broad spectrum of symptoms associated with AS, which often overlap with those of other neurodevelopmental disorders such as autism spectrum disorder (ASD) and Prader-Willi Syndrome (PWS). For example, individuals with AS may exhibit developmental delays, speech impairments, and motor coordination issues, which are also common in individuals with ASD. This diagnostic ambiguity can lead to delays in appropriate intervention and support, exacerbating the challenges faced by individuals and families affected by AS.


Beyond diagnostic challenges, resource allocation disparities further complicate the landscape of Angelman Syndrome. Despite its relatively low prevalence, AS has historically received less research funding compared to other genetic disorders with similar prevalence rates. This funding disparity not only reflects a lack of prioritization within the medical research community but also hampers efforts to develop effective treatments and interventions for individuals with AS. By diverting resources away from conditions with higher prevalence rates and greater public awareness, the perceived significance of AS may be further diminished, perpetuating the cycle of underfunding and neglect.


A depiction of Angelman Syndrome Characteristics
Image Credit: Canadian Angelman Syndrome Society (CASS); https://www.angelmancanada.org/

Angelman Syndrome, first described by British pediatrician Dr. Harry Angelman in 1965, is a complex genetic disorder characterized by developmental delays, intellectual disability, speech impairments, and unique behavioral traits. Its prevalence is estimated to be around 1 in 12,000 to 20,000 individuals, making it relatively rare compared to other neurodevelopmental disorders. However, its impact on individuals and families can be profound, affecting various aspects of daily life.


Individuals with Angelman Syndrome typically exhibit developmental delays from infancy, often experiencing delayed motor milestones such as sitting, crawling, and walking. Intellectual disability is another hallmark feature, with most individuals functioning in the moderate to severe range of intellectual impairment. Speech impairments, ranging from minimal verbal communication to complete absence of speech, further contribute to the challenges faced by individuals with AS in expressing their needs and desires. Additionally, the characteristic behavioral traits of Angelman Syndrome, including frequent laughter, excitability, and hyperactivity, can present unique challenges in social and educational settings.


Despite its rarity, Angelman Syndrome poses significant challenges for affected individuals and their families. The complex interplay of developmental delays, intellectual disability, speech impairments, and behavioral traits requires comprehensive support and intervention strategies tailored to the unique needs of each individual. As our understanding of Angelman Syndrome continues to evolve, efforts to improve diagnosis, treatment, and support services are essential to enhance the quality of life for individuals living with this condition.


Critics of Angelman Syndrome (AS) often argue that the condition is overhyped, suggesting that its prevalence is inflated due to misdiagnosis and the broadening of diagnostic criteria. They contend that some individuals diagnosed with AS may exhibit symptoms that overlap with other disorders, leading to confusion and uncertainty in diagnosis. Furthermore, skeptics question the allocation of resources and research funding to a condition they perceive as less prevalent or severe compared to others.


Several studies have indeed highlighted challenges in accurately diagnosing Angelman Syndrome, with misdiagnosis rates ranging from 10% to 50% in some cases (Buiting et al., 2016; Masurel-Paulet et al., 2014). The broad spectrum of symptoms associated with AS, including intellectual disability, speech impairments, and motor dysfunction, can overlap with other neurodevelopmental disorders, complicating diagnosis (Lossie et al., 2001). Additionally, advancements in genetic testing and increased awareness of AS may have led to more frequent diagnoses, potentially inflating prevalence estimates (Mertz et al., 2013).


A scientist Researching Angelman Syndrome
A scientist researching Angelman Syndrome Genetics

Moreover, critics argue that the allocation of resources to Angelman Syndrome research may not be commensurate with its prevalence or severity. A review of funding allocation for rare diseases found that AS received less funding compared to other genetic disorders with similar prevalence rates (Tambuyzer et al., 2010). This disparity in research funding has fueled skepticism about the perceived significance of AS within the medical community and among funding agencies, further contributing to the overhyped diagnosis argument.


On the other hand, advocates for AS emphasize the unique challenges faced by individuals living with the condition and their families. They argue that the complexity of AS, including its genetic underpinnings and distinct behavioral characteristics, warrants greater attention and specialized support. Additionally, they highlight the need for increased awareness among healthcare professionals to facilitate early diagnosis and intervention, ultimately improving outcomes for those affected by AS. Misdiagnosis is a significant concern in the area of Angelman Syndrome, with studies indicating relatively high rates ranging from 10% to 50%. This variability in diagnosis can be attributed to several factors, including the broad spectrum of symptoms associated with AS, which often overlap with those of other neurodevelopmental disorders such as autism spectrum disorder (ASD) and Prader-Willi Syndrome (PWS). For example, individuals with AS may exhibit developmental delays, speech impairments, and motor coordination issues, which are also common in individuals with ASD. This diagnostic ambiguity can lead to delays in appropriate intervention and support, exacerbating the challenges faced by individuals and families affected by AS.



The Misunderstood Condition Perspective on Angelman Syndrome (AS) holds significant relevance for art therapists and professionals within the NDIS, offering valuable insights into the challenges faced by individuals living with AS and their families. Rooted in robust research and evidence, this perspective emphasizes the intricate interplay between AS's genetic complexities, behavioral manifestations, and the need for specialized support.


Research into the genetic basis of Angelman Syndrome has revealed critical insights into the underlying mechanisms of neurodevelopmental disorders. Mutations in the UBE3A gene located on chromosome 15 have been identified as the primary cause of AS (Williams et al., 2010). Understanding the molecular pathways disrupted in AS has paved the way for targeted therapies and interventions aimed at addressing specific genetic abnormalities, offering hope for improved treatment outcomes.


Recent studies have highlighted the unique behavioral characteristics exhibited by individuals with AS, including frequent laughter, hyperactivity, and a fascination with water. These distinct traits not only underscore the complexity of AS but also emphasize the importance of tailored support and interventions. For example, art therapy has emerged as a promising therapeutic approach for individuals with AS, providing a creative outlet for self-expression and emotional regulation. Research has shown that art-based interventions can enhance communication skills, reduce anxiety, and improve overall well-being in individuals with neurodevelopmental disorders, including AS (Kaimal et al., 2016).


One of the key tenets of the Misunderstood Condition Perspective lies in recognizing AS's genetic underpinnings and the critical role they play in shaping therapeutic approaches. By integrating this genetic understanding into their practice, art therapists can offer more effective and targeted support, ultimately enhancing the well-being and quality of life of their clients. Additionally, early diagnosis and intervention are paramount in supporting individuals with AS and their families. High misdiagnosis rates underscore the need for increased awareness among healthcare professionals and NDIS providers, ensuring timely and accurate identification of individuals with AS.


Accepting that AS is a serious condition is and how it affects the individual offers art therapists and NDIS professionals a nuanced understanding how to make empathetic, and effective support for individuals with AS and their families. By embracing this perspective and integrating its principles into their work, art therapists can play a pivotal role in enhancing the lives of individuals with AS, promoting inclusion, and advocating for greater awareness and understanding within the broader community.


References:

Here is a list of the references and information sources used in our discussion:

1. Buiting, K., Williams, C., & Horsthemke, B. (2016). Angelman syndrome – insights into a rare neurogenetic disorder. Nature Reviews Neurology, 12(10), 584-593.

2. Masurel-Paulet, A., Andrieux, J., Callier, P., Cuisset, J.-M., Le Caignec, C., Holder, M., ... & Delezoide, A.-L. (2014). Delineation of 15q11. 2-q13 deletions. Clinical Genetics, 85(2), 126-131.

3. Lossie, A. C., Whitney, M. M., Amidon, D., Dong, H. J., Chen, P., Theriaque, D., ... & Driscoll, D. J. (2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Journal of Medical Genetics, 38(12), 834-845.

4. Mertz, L. G., Christensen, R., Vogel, I., Hertz, J. M., Nielsen, K. B., Grønskov, K., ... & Østergaard, J. R. (2013). Angelman syndrome in Denmark. Birth Defects Research Part A: Clinical and Molecular Teratology, 97(3), 162-165.

5. Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Needleman, K. I., & Valentine, J. (2010). Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nature Reviews Drug Discovery, 9(4), 267-285.

6. Kaimal, G., Carroll‐Haskins, K., Berberian, M., & Dougherty, C. (2016). A pilot study of creative arts therapy‐based group sessions with youth at clinical high risk for psychosis. Early Intervention in Psychiatry, 10(4), 342-348.

7. Williams, C. A., Driscoll, D. J., & Dagli, A. I. (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine, 12(7), 385-395.


Support Resources:

Here is a list of support services in Australia for individuals and families affected by Angelman Syndrome:


1. Angelman Syndrome Association Australia (ASAA)

2. Angelman Syndrome Foundation Australia

3. Angelman Syndrome Support Group Australia (ASSGA)

4. Disability Advocacy Network Australia (DANA)

5. National Disability Insurance Scheme (NDIS)

6. Carers Australia

7. Australian Government Department of Social Services

8. Disability Information and Support


These sources provided valuable information and insights into Angelman Syndrome, including its genetic basis, diagnostic challenges, behavioral characteristics, and therapeutic approaches.


I hope you enjoyed reading this article, and if you have a loved one experiencing AS, make sure to comment on this article! Sam.

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